Aliases & Classifications for G6pc3 Deficiency

MalaCards integrated aliases for G6pc3 Deficiency:

Name: G6pc3 Deficiency 25
Ubiquitous Glucose-6-Phosphatase Deficiency 25 29

Summaries for G6pc3 Deficiency

MalaCards based summary : G6pc3 Deficiency, also known as ubiquitous glucose-6-phosphatase deficiency, is related to severe congenital neutropenia and neutropenia. An important gene associated with G6pc3 Deficiency is G6PC3 (Glucose-6-Phosphatase Catalytic Subunit 3), and among its related pathways/superpathways are Glucose metabolism and AMP-activated Protein Kinase (AMPK) Signaling. The drugs Empagliflozin and Sodium-Glucose Transporter 2 Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, bone marrow and myeloid.

Wikipedia : 73 Glucose-6-phosphatase 3, also known as glucose-6-phosphatase beta, is an enzyme that in humans is... more...

GeneReviews: NBK285321

Related Diseases for G6pc3 Deficiency

Graphical network of the top 20 diseases related to G6pc3 Deficiency:



Diseases related to G6pc3 Deficiency

Symptoms & Phenotypes for G6pc3 Deficiency

Drugs & Therapeutics for G6pc3 Deficiency

Drugs for G6pc3 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Empagliflozin Approved Phase 2 864070-44-0
2 Sodium-Glucose Transporter 2 Inhibitors Phase 2
3 Hypoglycemic Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of the Safety and Efficacy of Empagliflozin Administration as a Treatment for Neutropenia in Patients With Glycogenosis Type 1b and G6PC3 Deficiency Recruiting NCT04138251 Phase 2 Empagliflozin

Search NIH Clinical Center for G6pc3 Deficiency

Genetic Tests for G6pc3 Deficiency

Genetic tests related to G6pc3 Deficiency:

# Genetic test Affiliating Genes
1 Ubiquitous Glucose-6-Phosphatase Deficiency 29

Anatomical Context for G6pc3 Deficiency

MalaCards organs/tissues related to G6pc3 Deficiency:

40
Neutrophil, Bone Marrow, Myeloid

Publications for G6pc3 Deficiency

Articles related to G6pc3 Deficiency:

(show top 50) (show all 53)
# Title Authors PMID Year
1
A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome. 25 61
24750412 2015
2
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations. 61 25
25391451 2014
3
Testicular failure in a patient with G6PC3 deficiency. 25 61
24796372 2014
4
Resolution of inflammatory colitis with pegfilgrastim treatment in a case of severe congenital neutropenia due to glucose 6 phosphatase catalytic subunit-3 deficiency. 61 25
24322501 2014
5
A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency. 61 25
23441086 2013
6
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations. 61 25
23758768 2013
7
Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency. 61 25
23180359 2013
8
A novel G6PC3 gene mutation in a patient with severe congenital neutropenia. 25 61
23018568 2013
9
G6PC3 mutations cause non-syndromic severe congenital neutropenia. 25 61
23298686 2013
10
Glucose-6-phosphatase-β, implicated in a congenital neutropenia syndrome, is essential for macrophage energy homeostasis and functionality. 61 25
22246029 2012
11
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. 61 25
22050868 2012
12
A case of syndromic neutropenia and mutation in G6PC3. 61 25
21285905 2011
13
Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. 25 61
20616219 2010
14
Genetic analysis and clinical picture of severe congenital neutropenia in Israel. 25
25284454 2015
15
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry. 25
25491320 2014
16
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. 25
25129144 2014
17
Sea-blue histiocytes in the bone marrow of a boy with severe congenital neutropenia associated with G6PC3 mutation. 25
24446813 2014
18
Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines. 25
24549407 2014
19
A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family. 25
24105461 2013
20
A congenital neutrophil defect syndrome associated with mutations in VPS45. 25
23738510 2013
21
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype. 25
23171239 2012
22
Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia. 25
22469094 2012
23
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. 25
21677667 2011
24
Two cases of syndromic neutropenia with a report of novel mutation in G6PC3. 25
21891829 2011
25
Congenital neutropenia: diagnosis, molecular bases and patient management. 25
21595885 2011
26
G-CSF improves murine G6PC3-deficient neutrophil function by modulating apoptosis and energy homeostasis. 25
21292774 2011
27
Variability of bone marrow morphology in G6PC3 mutations: is there a genotype-phenotype correlation or age-dependent relationship? 25
21264919 2011
28
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. 25
20717171 2011
29
Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes. 25
21219176 2011
30
Mutations in the G6PC3 gene cause Dursun syndrome. 25
20799326 2010
31
Digenic mutations in severe congenital neutropenia. 25
20220065 2010
32
Molecular basis of congenital neutropenia. 25
19794077 2009
33
Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement. 25
19011569 2009
34
A syndrome with congenital neutropenia and mutations in G6PC3. 25
19118303 2009
35
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). 25
17187068 2007
36
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. 25
12778173 2003
37
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. 25
11001877 2000
38
Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease. 61
33748703 2021
39
Neutrophil dysfunction triggers inflammatory bowel disease in G6PC3 deficiency. 61
32930428 2020
40
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor. 61
32294159 2020
41
Three patients with glucose-6 phosphatase catalytic subunit 3 deficiency. 61
32623377 2020
42
Inborn errors of metabolite repair. 61
31691304 2020
43
Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency. 61
30626647 2019
44
Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) Deficiency Associated With Autoinflammatory Complications. 61
29163546 2017
45
G6PC3 Deficiency: Primary Immune Deficiency Beyond Just Neutropenia. 61
26479985 2015
46
G6PC3 Deficiency 61
25879134 2015
47
Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency. 61
25492228 2015
48
Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes. 61
24145314 2013
49
Survival and differentiation defects contribute to neutropenia in glucose-6-phosphatase-β (G6PC3) deficiency in a model of mouse neutrophil granulocyte differentiation. 61
23686134 2013
50
Genetic etiologies of severe congenital neutropenia. 61
21206270 2011

Variations for G6pc3 Deficiency

Expression for G6pc3 Deficiency

Search GEO for disease gene expression data for G6pc3 Deficiency.

Pathways for G6pc3 Deficiency

Pathways related to G6pc3 Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.09 G6PC3 G6PC1
2
Show member pathways
11.89 G6PC3 G6PC1
3
Show member pathways
11.54 G6PC3 G6PC1
4
Show member pathways
11.45 G6PC3 G6PC1
5
Show member pathways
11.36 G6PC3 G6PC1
6 11.29 G6PC3 G6PC1
7
Show member pathways
11.16 G6PC3 G6PC1
8 10.79 G6PC3 G6PC1
9 10.3 G6PC3 G6PC1

GO Terms for G6pc3 Deficiency

Biological processes related to G6pc3 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gluconeogenesis GO:0006094 9.26 G6PC3 G6PC1
2 phosphate-containing compound metabolic process GO:0006796 9.16 G6PC3 G6PC1
3 glucose 6-phosphate metabolic process GO:0051156 8.96 G6PC3 G6PC1
4 glucose-6-phosphate transport GO:0015760 8.62 G6PC3 G6PC1

Molecular functions related to G6pc3 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glucose-6-phosphatase activity GO:0004346 8.62 G6PC3 G6PC1

Sources for G6pc3 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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